AutismKB 2.0

Annotation Detail for PSEN1


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Basic Information Top
Gene Symbol:PSEN1 ( AD3,FAD,PS1,S182 )
Gene Full Name: presenilin 1
Band: 14q24.2
Quick LinksEntrez ID:5663; OMIM: 104311; Uniprot ID:PSN1_HUMAN; ENSEMBL ID: ENSG00000080815; HGNC ID: 9508
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
43Phosphoserine.
310Phosphoserine; by PKA.
346Phosphoserine; by PKC.
365Phosphoserine.
367Phosphoserine.
435PAL.
Location(AA) Modifications Resource
43Phosphoserine.Swiss-Prot 53.0
43PhosphoserinePhospho.ELM 6.0
310Phosphoserine (by PKA).Swiss-Prot 53.0
310Phosphoserine (PKA
346Phosphoserine (by PKC).Swiss-Prot 53.0
346Phosphoserine (PKC alpha)Phospho.ELM 6.0
353Phosphoserine (GSK-3beta)Phospho.ELM 6.0
354Phosphothreonine (CDK5;CDK
357Phosphoserine (GSK-3beta)Phospho.ELM 6.0
367Phosphoserine (By similarity).Swiss-Prot 53.0
367PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
279N-linkedHMM predict
310Phosphoserine(PKA)HMM predict
310Phosphoserine(PKG)HMM predict
320Phosphothreonine(PKC)HMM predict
354Phosphothreonine(PKA)HMM predict
354Phosphothreonine(CDK)HMM predict
405N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000021
  • Location:chr14 72672931-72756861
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 72765038 72765211 173 8263
Nanog hESGSE18292 72759551 72759941 390 2885
P300 T30-glioblastomaGSE21026 72764504 72765668 1164 8225
RARA MCF7GSE15244 72764859 72765593 734 8365
RARG MCF7GSE15244 72764859 72765414 555 8275
Sox2 hESGSE18292 72759616 72759787 171 2840
p130 shRbQuiescentGSE19898 72764471 72764966 495 7857
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 72748271 72748953 682 0
CTCF CD4GSE12889 72709641 72709858 217 0
CTCF CD4SISSRdata 72709641 72709858 217 0
ETS1 JurkatGSE17954 72672587 72673480 893 0
FoxA1 MCF7MACSdata 72734925 72735108 183 0
H3K4me3 colorectalcancer 72673614 72674173 559 0
H3ac HepG2E 72673102 72674236 1134 0
Nanog ESGSE20650 72707046 72707587 541 0
Nanog hESGSE18292 72716157 72716340 183 0
Oct1 HelaGSE14283 72716516 72716630 114 0
Oct1 HelaGSE14283 72716798 72716830 32 0
Oct1 HelaGSE14283 72729701 72729737 36 0
P300 T0-glioblastomaGSE21026 72716751 72717383 632 0
P300 T30-glioblastomaGSE21026 72716466 72717070 604 0
PHF8 Hs68minusFBSGSE20725 72672463 72673756 1293 0
RARG MCF7GSE15244 72673538 72673963 425 0
Rb SenescentGSE19898 72724784 72725135 351 0
STAT1 HeLaGSE12782 72705810 72707158 1348 0
STAT1 HeLaGSE12783 72705810 72707157 1347 0
Sox2 hESGSE18292 72716109 72716341 232 0
Sox2 hESGSE18292 72734699 72734956 257 0
TAF HelaGSE8489 72673266 72673963 697 0
TAF k562GSE8489 72673324 72674134 810 0
hScc1 CdLSGSE12603 72709584 72710120 536 0
p130 SenescentGSE19898 72673332 72673670 338 0
p130 shRbQuiescentGSE19898 72673088 72673691 603 0
p130 shRbSenescentGSE19898 72672986 72673577 591 0
p130 shRbSenescentGSE19898 72724835 72725139 304 0
p63 keratinocytesGSE17611 72716474 72717252 778 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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